Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)

American Journal of Medical Genetics
Mitsuo MasunoY Kuroki

Abstract

We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, parental diagnosis using FISH is feasible.

References

Dec 1, 1989·Jinrui idengaku zasshi. The Japanese journal of human genetics·E TakahashiR White
Jul 1, 1984·American Journal of Medical Genetics·W B DobynsF Greenberg
Apr 1, 1983·The Journal of Pediatrics·W B DobynsD H Ledbetter
Sep 1, 1994·Journal of Medical Genetics·A KöhlerU Müller

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Citations

Jun 17, 2003·Journal of Medical Genetics·B B A De VriesC van Ravenswaaij-Arts
Jan 7, 2004·American Journal of Medical Genetics. Part a·Mary Ann ThomasVazken M Der Kaloustian
Oct 31, 2002·European Journal of Human Genetics : EJHG·Christine A JoyceN Simon Thomas

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